Results 61 to 70 of about 3,185 (193)

Severe Recurrent Epistaxis - The Main Symptom of Hereditary Haemorrhagic Teleangiectasia

open access: yesActa Medica Martiniana, 2018
Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is of dominant autosomal inheritance. Pathologic changes of vascular walls cause recurrent episodes of bleeding from many organ systems.
Lucanska M, Hajtman A, Pecova R
doaj   +1 more source

High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia

open access: yesEuropean Journal of Neurology, Volume 31, Issue 2, February 2024.
Abstract Background and purpose Hereditary haemorrhagic telangiectasia (HHT) is a genetic disease with fragile blood vessels and vascular malformations, potentially causing neurological manifestations, including stroke and cerebral abscesses. The study aimed to investigate neurological manifestations in the Danish HHT database, focusing on pulmonary ...
Mikkel Seremet Kofoed   +5 more
wiley   +1 more source

Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele

open access: yesTraffic, Volume 25, Issue 1, January 2024.
The formation of heterodimers between ER‐retained endoglin mutants and WT endoglin impairs WT maturation and trafficking to the plasma membrane. Abstract Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder affecting 1 in 5000–8000 individuals.
Nesrin Gariballa   +2 more
wiley   +1 more source

Síndrome de Osler-Weber-Rendu

open access: yesClinical and Biomedical Research, 2013
Homem, 68anos, com história de anemia e episódios frequentes de epistaxe e obstrução nasal pouco responsivos à terapêutica usual, apresentava telangiectasias nas mucosas nasal e oral.
Maurício Farenzena   +4 more
doaj   +2 more sources

A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension

open access: yesCase Reports in Gastrointestinal Medicine, Volume 2024, Issue 1, 2024.
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu–Osler–Weber syndrome, is a vascular disorder of autosomal dominant etiology. The hallmark clinical feature is the presence of recurrent episodes of epistaxis in patients with vascular malformations and a tendency to bleed.
Denisse Morales-Tovar   +5 more
wiley   +1 more source

Neurologic Manifestation as Initial Presentation in a Case of Hereditary Haemorrhagic Telangiectasia

open access: yesClinical Medicine Insights: Case Reports, 2010
Hereditary Haemorrhagic Telangiectasia (HHT), or Osler-Weber-Rendu syndrome is an uncommon autosomal dominant multi-organ condition of vascular dysplasias.
Yeow Kwan Teo, Ai Ching Kor
doaj   +1 more source

Pulmonary arteriovenous fistula in the newborn: a case report of Rendu-Osler-Weber syndrome and a review of the literature

open access: yesThe Turkish Journal of Pediatrics, 2001
In most instances, congenital arteriovenous fistula is only one manifestation of a more widespread abnormality; 60% of patients also have hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber syndrome).
R Olguntürk   +5 more
doaj  

Rheumatoid arthritis associated with Rendu — Osler — Weber disease: Second description

open access: diamond, 2021
Leonid P. Churilov   +3 more
openalex   +2 more sources

Telangiectasia hemorrágica hereditaria en una familia colombiana

open access: yesActa Biológica Colombiana, 2001
Se presenta en detalle un caso de Telangiectasia Hemorrágica Hereditaria (enfermedad de Osler -Weber-Rendu). La paciente presenta un cuadro clínico clásico de la enfermedad y se observa el componente Autosómico Dominante en una familia de ancestros ...
A. Dussán, CM. Restrepo
doaj  

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